Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:newborn respiratory distress syndrome
go back to main search page
Accession:DOID:12716 term browser browse the term
Definition:A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)
Synonyms:exact_synonym: HMD - hyaline membrane disease;   NEONATAL RESPIRATORY DISTRESS;   Neonatal Respiratory Distress Syndrome;   RDS - Infants;   infantile respiratory distress syndrome;   pulmonary hyaline membrane disease;   pulmonary hypoperfusion syndrome of newborn;   respiratory distress syndrome of newborn;   respiratory distress syndrome, infant
 primary_id: MESH:D012127
 alt_id: DOID:9002636;   MESH:C538359;   OMIA:000101
 xref: EFO:1000644;   ICD10CM:P22.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
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
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
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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      respiratory system disease 3356
        Respiration Disorders 451
          respiratory failure 362
            newborn respiratory distress syndrome 202
              Brain-Lung-Thyroid Syndrome 174
              CHITAYAT SYNDROME 1
              Hyaline Membrane Disease + 6
              Transient Tachypnea of the Newborn 0
              autosomal recessive distal hereditary motor neuronopathy 1 1
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      respiratory system disease 3356
        lower respiratory tract disease 2147
          lung disease 2109
            respiratory failure 362
              newborn respiratory distress syndrome 202
                Brain-Lung-Thyroid Syndrome 174
                CHITAYAT SYNDROME 1
                Hyaline Membrane Disease + 6
                Transient Tachypnea of the Newborn 0
                autosomal recessive distal hereditary motor neuronopathy 1 1
paths to the root