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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 chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427 		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 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822448 NCBI chr 1:176,639,189...176,712,171
Ensembl chr 1:180,941,836...181,014,823 		JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304 		JBrowse link
G FST follistatin ISO RGD PMID:7885475 RGD:737711 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G IFT80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974 		JBrowse link
G IL15 interleukin 15 ISO associated with Influenza RGD PMID:20003352 RGD:4888530 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622 		JBrowse link
G IL18 interleukin 18 ISO associated with pancreatitis; protein:increased expression:plasma RGD PMID:19357034 RGD:4889556 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Respiratory failure ClinVar PMID:25741868 NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245 		JBrowse link
G LOC100993088 endothelin-converting enzyme-like 1 ISO RGD PMID:10400672 RGD:734911 NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864 		JBrowse link
G MAPT microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:14595660 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:mutations:5' utr, exon:multiple (human) RGD PMID:18582923 RGD:4889496 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr20:17,928,751...17,950,907
Ensembl chr20:17,907,241...17,929,214 		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 9:81,814,766...81,947,341
Ensembl chr 9:109,980,748...110,107,480 		JBrowse link
G NUP188 nucleoporin 188 ISO DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) RGD PMID:32275884 RGD:243048418 NCBI chr 9:100,069,656...100,130,521
Ensembl chr 9:128,733,780...128,791,252 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 6:151,827,323...151,937,658
Ensembl chr 6:156,517,661...157,088,251 		JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: therapeutic CTD PMID:6662192 NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452 		JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Respiratory insufficiency ClinVar PMID:25741868 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G SFTPB surfactant protein B ISO associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human)
associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human)		 RGD PMID:1622844 PMID:8163685 PMID:12515908 PMID:12639841 RGD:1624152 RGD:4143410 RGD:4143414 RGD:4143460 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984597 NCBI chr 5:134,737,344...134,756,153
Ensembl chr 5:140,859,984...140,877,214 		JBrowse link
G TBCD tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr17:77,170,966...77,371,078
Ensembl chr17:82,971,613...83,158,223 		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 chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Respiratory failure ClinVar PMID:34077761 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1305443 PMID:1833029 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Progressive pulmonary failure ClinVar PMID:11863428 PMID:36214313 NCBI chr 8:30,353,643...30,492,978
Ensembl chr 8:27,541,145...27,679,855 		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 chr18:43,164,504...43,195,038
Ensembl chr18:46,512,374...46,542,737 		JBrowse link
G ACE angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204859 PMID:22009550 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACE2 angiotensin converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009550 NCBI chr  X:8,189,267...8,229,415
Ensembl chr  X:15,470,896...15,510,891 		JBrowse link
G ACO2 aconitase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:lung RGD PMID:16456142 RGD:1625343 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095 		JBrowse link
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784 		JBrowse link
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12394941 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G AMBP alpha-1-microglobulin/bikunin precursor ISO RGD PMID:15710155 RGD:6904148 NCBI chr 9:85,157,680...85,176,253
Ensembl chr 9:113,525,835...113,543,422 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma
protein:increased activation:respiratory system fluid/secretion		 RGD PMID:2784515 PMID:3826891 RGD:5129694 RGD:5130153 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G C3AR1 complement C3a receptor 1 treatment ISO RGD PMID:16782534 RGD:2303017 NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381 		JBrowse link
G C5 complement C5 ISO associated with Burns (epidermis)
associated with Sepsis;protein:increased activation:plasma
protein:increased activation:respiratory system fluid/secretion		 RGD PMID:3264125 PMID:3826891 PMID:10486240 RGD:1600658 RGD:5130150 RGD:5130153 NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856 		JBrowse link
G C5AR1 complement C5a receptor 1 treatment ISO RGD PMID:16782534 RGD:2303017 NCBI chr19:44,293,612...44,310,430
Ensembl chr19:52,950,317...52,966,146 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CES3 carboxylesterase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr16:47,292,042...47,340,670 JBrowse link
G CHPT1 choline phosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292752 NCBI chr12:99,278,842...99,311,790
Ensembl chr12:102,692,554...102,711,745 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO RGD PMID:9288136 RGD:2311389 NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO RGD PMID:8810593 RGD:4143190 NCBI chr 4:50,192,665...50,195,642
Ensembl chr 4:56,024,848...56,027,989 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human) RGD PMID:22897124 RGD:150523785 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G EBF1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 5:154,091,337...154,492,474
Ensembl chr 5:160,708,235...161,108,568 		JBrowse link
G EDN1 endothelin 1 treatment ISO protein:increased secretion:plasma (human)
protein:increased secretion:plasma (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:1618274 PMID:8256914 PMID:16625121 PMID:16741035 RGD:4145073 RGD:4145079 RGD:8662284 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EGR1 early growth response 1 ISO protein:increased expression:lung (mouse) RGD PMID:16713977 RGD:5131902 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:7,382,669...7,418,469
Ensembl chr 7:6,222,187...6,256,252 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:10528607 RGD:11340213 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605 		JBrowse link
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 4:74,727,321...75,164,407
Ensembl chr 4:85,459,225...85,857,321 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936 		JBrowse link
G HMOX1 heme oxygenase 1 susceptibility ISO DNA:polymorphism:promoter RGD PMID:19526221 RGD:4145346 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO RGD PMID:12235111 RGD:5688755 NCBI chr 5:128,463,186...128,517,563
Ensembl chr 5:134,619,076...134,673,658 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO protein:increased secretion:plasma (human) RGD PMID:19858233 RGD:4145485 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IFRD1 interferon related developmental regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:104,412,763...104,438,490
Ensembl chr 7:117,115,187...117,141,887 		JBrowse link
G IGFBP6 insulin like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132 		JBrowse link
G IL10 interleukin 10 treatment ISO associated with Sepsis RGD PMID:22037734 RGD:11049486 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL15 interleukin 15 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622 		JBrowse link
G IL1B interleukin 1 beta disease_progression ISO protein:increased expression:bronchioalveolar lavage fluid (human)
protein:increased expression:lung		 RGD PMID:8810593 PMID:18065658 RGD:4142869 RGD:4143190 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1RN interleukin 1 receptor antagonist disease_progression ISO RGD PMID:8686976 PMID:8810593 PMID:22810359 RGD:4143190 RGD:4143191 RGD:6909177 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G IL9 interleukin 9 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr 5:131,283,170...131,289,777
Ensembl chr 5:137,425,367...137,428,945 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LCT lactase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764 		JBrowse link
G LEP leptin disease_progression ISO respiratory system fluid/secretion RGD PMID:21317313 RGD:5128773 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519 		JBrowse link
G LIM2 lens intrinsic membrane protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:48,315,028...48,323,144
Ensembl chr19:57,200,260...57,208,354 		JBrowse link
G LOC100968898 cytochrome b5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732 		JBrowse link
G LOC100986475 metallothionein-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093 		JBrowse link
G LOC103783265 pulmonary surfactant-associated protein A1 ISO protein:increased expression:serum
protein:decreased expression:lung		 RGD PMID:10588595 PMID:17662121 RGD:4143379 RGD:4143436 NCBI chr10:76,571,312...76,575,820 JBrowse link
G LTA lymphotoxin alpha ISO DNA:polymorhpism:blood: RGD PMID:16135717 RGD:4143247 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:missense mutation:exon:p.G54N (human) RGD PMID:17133182 RGD:4889476 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MDH1 malate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr2A:63,658,933...63,677,257
Ensembl chr2A:64,785,132...64,803,631 		JBrowse link
G MFN1 mitofusin 1 treatment ISO RGD PMID:27830717 RGD:12910765 NCBI chr 3:176,378,175...176,423,943
Ensembl chr 3:184,552,108...184,596,763 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:lung RGD PMID:21211006 RGD:5129208 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MT3 metallothionein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr16:36,875,919...36,877,558
Ensembl chr16:56,007,922...56,028,093 		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 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850 		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 chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261 		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 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO RGD PMID:19741160 RGD:5683903 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356 		JBrowse link
G PDPN podoplanin ISO RGD PMID:11790662 RGD:2292244 NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584 		JBrowse link
G PLA2G2A phospholipase A2 group IIA ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:22173044 RGD:6482717 NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627 		JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:10881173 NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:17994220 RGD:4892109 NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136 		JBrowse link
G PPBP pro-platelet basic protein ISO protein:increased expression:plasma, respiratory system fluid/secretion : RGD PMID:8498526 RGD:401794588 NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702 		JBrowse link
G PRDX6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:148,988,836...149,000,345 JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756 		JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:57,468,590...57,477,390
Ensembl chr15:76,431,890...76,440,655 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO RGD PMID:22363101 RGD:6483444 NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402 		JBrowse link
G RAMP2 receptor activity modifying protein 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:lung		 CTD
RGD		 PMID:17068622 PMID:25070658 RGD:1642683 NCBI chr17:14,554,888...14,557,175
Ensembl chr17:14,779,666...14,781,481 		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 chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497 		JBrowse link
G SERPINA3 serpin family A member 3 ISO protein:increased expression:serum RGD PMID:2432615 RGD:5147458 NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515 		JBrowse link
G SERPINC1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8810955 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369 		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:16284739 PMID:17667242 RGD:4144037 RGD:4144039 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G SERPINH1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:70,621,893...70,632,570 JBrowse link
G SFTPB surfactant protein B susceptibility ISO associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
protein:decreased expression:lung
protein:increased expression:plasma
associated with Lung Injury;DNA:polymorphism:intron (human)		 RGD PMID:9351625 PMID:14718442 PMID:15190959 PMID:17662121 RGD:4143379 RGD:4143404 RGD:4143408 RGD:4143447 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SFTPC surfactant protein C ISO protein:decreased expression:lung RGD PMID:9720777 PMID:17662121 RGD:4143379 RGD:4144159 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:serum RGD PMID:10588595 RGD:4143436 NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:4,985,477...4,988,348
Ensembl chr17:4,973,000...4,975,878 		JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:25070658 RGD:11035305 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G TBXA2R thromboxane A2 receptor treatment ISO RGD PMID:1934328 RGD:11059533 NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924 		JBrowse link
G THBD thrombomodulin ISO protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12707536 RGD:1601651 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:18849495 RGD:5129134 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728 		JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:decreased expression:lung (mouse) RGD PMID:12763043 RGD:5129557 NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum
associated lung injury; DNA:polymorphism:promoter:		 RGD PMID:16135717 PMID:21062445 RGD:4143247 RGD:5128683 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:plasma (human)
protein:increased expression:lung (mouse)		 RGD PMID:11159038 PMID:21070800 PMID:21283009 PMID:21512145 RGD:5131096 RGD:5131145 RGD:5131147 RGD:5131206 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:lung (mouse)
human protein in rat model		 RGD PMID:11159038 PMID:19916860 PMID:21512145 RGD:5131147 RGD:5131206 RGD:5131423 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646 		JBrowse link
G TSPAN8 tetraspanin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr12:68,653,209...68,686,565
Ensembl chr12:71,417,577...71,450,873 		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 chr16:2,532,281...2,583,408
Ensembl chr16:3,708,189...3,758,615 		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 chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G IL10 interleukin 10 susceptibility ISO DNA:SNPs (human) RGD PMID:17690329 RGD:4142510 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		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 chr 5:131,283,170...131,289,777
Ensembl chr 5:137,425,367...137,428,945 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) RGD PMID:19191136 RGD:4890372 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		JBrowse link
G PTGFR prostaglandin F receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1219628 NCBI chr 1:77,714,164...77,762,171
Ensembl chr 1:79,794,831...79,841,467 		JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:23727623 RGD:11062088 NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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 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
ClinVar		 PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 More... NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659 		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 chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092 		JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861 		JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166 		JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393 		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 chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801 		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 chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239 		JBrowse link
G ARF6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466 		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 chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803 		JBrowse link
G C15H14orf119 chromosome 15 C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,915,675...3,918,781 JBrowse link
G C15H14orf28 chromosome 15 C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917 		JBrowse link
G C15H14orf93 chromosome 15 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242 		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 chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981 		JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,200,297...5,206,018 JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361 		JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,985,642...4,989,985 JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965 		JBrowse link
G CMA1 chymase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548 		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 chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341 		JBrowse link
G CTSG cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960 		JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587 		JBrowse link
G DHRS4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 Ensembl chr14:22,831,756...22,846,695 JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296 		JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186 		JBrowse link
G EDDM3A epididymal protein 3A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615 		JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084 		JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732 		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 chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958 		JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742 		JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,347,284...18,352,705 JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,124,746...25,127,510 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 chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789 		JBrowse link
G GZMB granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931 		JBrowse link
G GZMH granzyme H ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893 		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 chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,022,280...2,083,215 JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496 		JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498 		JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,287,866...16,290,884 JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824 		JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924 		JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966 		JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724 		JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993 		JBrowse link
G LOC100976049 dehydrogenase/reductase SDR family member 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G LOC100979193 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877 		JBrowse link
G LOC100980742 putative uncharacterized protein encoded by LINC01599 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,671,031...30,680,109 JBrowse link
G LOC100980776 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952 		JBrowse link
G LOC100981889 non-secretory ribonuclease ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849 		JBrowse link
G LOC100987236 signal recognition particle subunit SRP54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151 		JBrowse link
G LOC100988821 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130 		JBrowse link
G LOC100992784 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985 		JBrowse link
G LOC100993494 olfactory receptor 10G2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,418,780...2,419,723 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 chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212 		JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936 		JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794 		JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606 		JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901 		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 chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906 		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 chr14:30,199,011...30,201,566 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 chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998 		JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108 		JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331 		JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249 		JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258 		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 chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
ClinVar		 PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 More...
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:12,338,341...12,628,346 JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775 		JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794 		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 chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347 		JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169 		JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311 		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 chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430 		JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,847,810...1,849,797 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201 		JBrowse link
G RNASE6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988 		JBrowse link
G RNASE7 ribonuclease A family member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354 		JBrowse link
G RNASE8 ribonuclease A family member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319 		JBrowse link
G RNF31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064 		JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723 		JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265 		JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,155,559...30,164,677 JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000 		JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133 		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 chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423 		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 chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112 		JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705 		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 chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:15,190,833...15,219,882 JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838 		JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,578,254...5,819,152 JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477 		JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825 		JBrowse link
G TM9SF1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,965,352...4,972,476 JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,913,655...1,917,874 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 chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042 		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 chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696 		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 chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231 		JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187 		JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925 		JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300 		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 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505 		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 OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808 		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 chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999 		JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr 5:166,658,166...166,661,098
Ensembl chr 5:173,411,881...173,414,106 		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 chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726 		JBrowse link
G PHOX2B paired like homeobox 2B 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 chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		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 chr12:106,965,514...107,025,380
Ensembl chr12:110,359,936...110,419,574 		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 chr10:97,830,026...97,832,751 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 chr20:42,162,502...42,172,829
Ensembl chr20:43,249,725...43,254,134 		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 chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		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 1:77,198,130...77,237,014
Ensembl chr 1:79,305,605...79,318,199 		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 3:177,948,040...178,012,705 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 chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323 		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 chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303 		JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103783265 pulmonary surfactant-associated protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266 PMID:25741868 NCBI chr10:76,571,312...76,575,820 JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G SFTPC surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		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 chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172 		JBrowse link
G DCTN1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		JBrowse link
G LEP leptin ISO Obesity Hypoventilation Syndrome RGD PMID:16179823 RGD:5128870 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519 		JBrowse link
G PHOX2B paired like homeobox 2B ISO RGD PMID:12640453 PMID:14566559 RGD:1599147 RGD:1599148 NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		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 OAS1 2'-5'-oligoadenylate synthetase 1 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 chr12:110,511,984...110,525,343
Ensembl chr12:113,896,760...113,921,814 		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 OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr12:40,726,137...40,757,690 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 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400 		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 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470 		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
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		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr2B:65,783,512...66,064,618 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 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657 		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 chr17:4,787,139...4,789,339
Ensembl chr17:4,777,157...4,779,403 		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:25741905 PMID:32004447 NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430 		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 chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870 		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 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CAT catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		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 chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO OMIM:267450 MouseDO NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		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 chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (mouse)
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)		 RGD PMID:19837405 PMID:20888423 RGD:4145440 RGD:4145493 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G LOC103783265 pulmonary surfactant-associated protein A1 susceptibility ISO DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:increased expression:lung		 RGD PMID:11063734 PMID:11504697 RGD:4143428 RGD:4143433 NCBI chr10:76,571,312...76,575,820 JBrowse link
G MBL2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432 		JBrowse link
G MEGF10 multiple EGF like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr 5:122,639,155...122,877,324
Ensembl chr 5:128,466,095...128,641,043 		JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:267450 MouseDO NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668 		JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr 3:50,273,611...50,277,175
Ensembl chr 3:51,508,932...51,512,776 		JBrowse link
G NPSR1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 7:35,274,102...35,494,389
Ensembl chr 7:35,663,335...35,883,988 		JBrowse link
G SFTPB surfactant protein B susceptibility ISO DNA:polymorphism:intron (human)
mRNA, protein:decreased expression:lung
DNA:polymorphism: :p.T131I (human)		 RGD PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 More... RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		JBrowse link
G SFTPD surfactant protein D susceptibility ISO DNA:SNP: :p.A160T (human)
protein:increased expression:lung		 RGD PMID:11504697 PMID:17524024 RGD:4143428 RGD:4143507 NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr21:18,029,831...18,037,526 JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr 1:176,957,298...176,976,033 JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM:267450 MouseDO NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 8:129,842,580...129,884,528
Ensembl chr 8:132,818,397...132,858,861 		JBrowse link
G SKIL SKI like proto-oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 3:167,372,104...167,411,287
Ensembl chr 3:175,562,007...175,600,181 		JBrowse link
G SMAD7 SMAD family member 7 ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:42,306,324...42,337,214 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:lung,serum: RGD PMID:24535699 RGD:11073678 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		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 susceptibility ISO ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome ClinVar
OMIM		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... NCBI chr2A:74,428,060...74,458,574
Ensembl chr2A:75,934,752...75,953,296 		JBrowse link
pulmonary edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO associated with Acute Lung Injury RGD PMID:20228181 RGD:5128842 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885 		JBrowse link
G ADORA2A adenosine A2a receptor ISO associated with Reperfusion Injury RGD PMID:19909990 RGD:4890361 NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189 		JBrowse link
G ADRB2 adrenoceptor beta 2 ISO DNA:SNPs: :46A>G, 79C>G and 523C>A (human) RGD PMID:18987456 PMID:20546540 RGD:4144884 RGD:5129128 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892 		JBrowse link
G AGT angiotensinogen ISO DNA:polymorphism: :p.M235T (human) RGD PMID:21393362 RGD:5129160 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO RGD PMID:8111595 RGD:4890432 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15612528 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO associated with Shock, Septic;protein:increased expression:lung RGD PMID:18555988 RGD:2307014 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G GHRH growth hormone releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:22308467 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240 		JBrowse link
G IL13 interleukin 13 ISO aosciated with Enterovirus Infections RGD PMID:15635619 RGD:4145737 NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548 		JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28600744 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G IL18 interleukin 18 ISO RGD PMID:19394645 RGD:4889555 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G IL1B interleukin 1 beta ISO associated with Subarachnoid Hemorrhage;protein:increased expression:lung RGD PMID:19875734 RGD:4142817 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL33 interleukin 33 ISO associated with Plasmodium falciparum malaria;protein:increased expression:lung RGD PMID:26437894 RGD:11342349 NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624 		JBrowse link
G LOC103783265 pulmonary surfactant-associated protein A1 susceptibility ISO DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) RGD PMID:16162765 RGD:4144872 NCBI chr10:76,571,312...76,575,820 JBrowse link
G MIF macrophage migration inhibitory factor ISO associated with hemorrhage RGD PMID:17277045 RGD:4891015 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33012731 NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:alveolus
protein:increased expression:lung		 RGD PMID:14767587 PMID:16256382 RGD:4891463 RGD:5132626 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:14767587 PMID:16844920 RGD:5132626 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11818323 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO RGD PMID:12353928 RGD:1302423 NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19633070 RGD:5147816 NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:11919079 NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461 		JBrowse link
G TLR4 toll like receptor 4 ISO associated with reperfusion injury RGD PMID:19376887 RGD:4144136 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:9628235 PMID:21188088 PMID:34390737 RGD:4142833 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16793871 RGD:1580547 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G FIS1 fission, mitochondrial 1 ISO mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338 		JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G MFN2 mitofusin 2 ISO mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077 		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 ISO compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr17:64,005,085...64,065,153
Ensembl chr17:69,411,032...69,447,343 		JBrowse link
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 ISO mRNA, protein:decreased expression:hypothalamus (rat) RGD PMID:21406516 RGD:5687169 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO mRNA, protein:decreased expression:hypothalamus RGD PMID:21406516 RGD:5687169 NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      respiratory system disease 3352
        Respiration Disorders 451
          respiratory failure 362
            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 1
            Tauopathy and Respiratory Failure 0
            Thompson Baraitser Syndrome 0
            adult respiratory distress syndrome 87
            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 0
            neonatal respiratory failure + 3
            newborn respiratory distress syndrome + 202
            pulmonary edema + 35
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      respiratory system disease 3352
        lower respiratory tract disease 2147
          lung disease 2109
            respiratory failure 362
              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 1
              Tauopathy and Respiratory Failure 0
              Thompson Baraitser Syndrome 0
              adult respiratory distress syndrome 87
              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 0
              neonatal respiratory failure + 3
              newborn respiratory distress syndrome + 202
              pulmonary edema + 35
paths to the root