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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:newborn respiratory distress syndrome
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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 chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620 		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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CAT catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		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 chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO OMIM:267450 MouseDO NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353
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 chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G MBL2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MEGF10 multiple EGF like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr 2:130,226,222...130,403,960
Ensembl chr 2:130,189,556...130,401,077 		JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:267450 MouseDO NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,749 		JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr13:32,830,895...32,834,205
Ensembl chr13:32,830,899...32,834,183 		JBrowse link
G NPSR1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754 		JBrowse link
G SFTPA1 surfactant protein A1 susceptibility ISO protein:increased expression:lung
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)		 RGD PMID:11063734 PMID:11504697 RGD:4143428 RGD:4143433 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393 		JBrowse link
G SFTPB surfactant protein B susceptibility ISO DNA:polymorphism:intron (human)
DNA:polymorphism: :p.T131I (human)
mRNA, protein:decreased expression:lung		 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 chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Neonatal respiratory distress ClinVar PMID:25741868 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		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 chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM:267450 MouseDO NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525 		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 chr 7:76,396,548...76,431,836
Ensembl chr 7:76,396,484...76,431,809 		JBrowse link
G ACIN1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,951,203...75,989,234
Ensembl chr 7:75,951,203...75,989,231 		JBrowse link
G ADCY4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,955,410...74,972,440
Ensembl chr 7:74,956,220...74,972,196 		JBrowse link
G AJUBA ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585 		JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177 		JBrowse link
G ANG angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		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 chr 7:75,533,131...75,549,490
Ensembl chr 7:75,533,202...75,549,488 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722 		JBrowse link
G ARF6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,697,582...179,717,299
Ensembl chr 1:179,713,299...179,717,841 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913 		JBrowse link
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G BCL2L2 BCL2 like 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763 		JBrowse link
G BRMS1L BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,083,286...64,123,852
Ensembl chr 7:64,083,289...64,123,857 		JBrowse link
G C1H14orf28 chromosome 1 C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,145,918...175,156,597
Ensembl chr 1:175,145,913...175,156,606 		JBrowse link
G C7H14orf119 chromosome 7 C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,947,765...75,951,047
Ensembl chr 7:75,947,769...75,950,956 		JBrowse link
G C7H14orf93 chromosome 7 C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,033,750...76,061,877
Ensembl chr 7:76,045,686...76,058,891 		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 chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,528...75,241,242 		JBrowse link
G CBLN3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,865,931...74,868,443
Ensembl chr 7:74,864,114...74,868,445 		JBrowse link
G CDH24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,990,185...76,001,133
Ensembl chr 7:75,990,220...76,001,130 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146 		JBrowse link
G CHMP4A charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,089,092...75,093,796
Ensembl chr 7:75,089,423...75,097,761 		JBrowse link
G CIDEB cell death inducing DFFA like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,982,941...74,985,776
Ensembl chr 7:74,982,855...74,985,775 		JBrowse link
G CLEC14A C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:61,825,688...61,827,960
Ensembl chr 7:61,826,015...61,832,808 		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 chr 7:75,707,132...75,709,809
Ensembl chr 7:75,701,741...75,710,003 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G CPNE6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,213,643...75,219,031
Ensembl chr 7:75,213,644...75,219,031 		JBrowse link
G DAD1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,432,040...76,457,403
Ensembl chr 7:76,432,051...76,457,192 		JBrowse link
G DCAF11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,169,701...75,181,137
Ensembl chr 7:75,168,992...75,180,953 		JBrowse link
G DHRS1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,992,120...75,002,154
Ensembl chr 7:74,992,115...75,002,148 		JBrowse link
G DHRS4 dehydrogenase/reductase (SDR family) member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,242,121...75,255,594
Ensembl chr 7:75,242,124...75,255,598 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,482,189...179,491,136
Ensembl chr 1:179,482,208...179,491,142 		JBrowse link
G DTD2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986 		JBrowse link
G EAPP E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,240,209...65,263,201
Ensembl chr 7:65,240,220...65,263,272 		JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,233,991...78,236,747
Ensembl chr 7:78,233,991...78,236,747 		JBrowse link
G EFS embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,720,033...75,731,615
Ensembl chr 7:75,722,183...75,731,610 		JBrowse link
G EGLN3 egl-9 family hypoxia inducible factor 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,522...65,833,529 		JBrowse link
G EMC9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,159,150...75,161,917
Ensembl chr 7:75,159,236...75,161,829 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		JBrowse link
G FBXO33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,877,189...169,915,856
Ensembl chr 1:169,877,197...169,915,798 		JBrowse link
G FITM1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,166,986...75,168,240
Ensembl chr 7:75,166,912...75,168,245 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,317,558...175,332,705
Ensembl chr 1:175,317,559...175,332,987 		JBrowse link
G FOXA1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220 		JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145 		JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:174,732,612...174,734,834 JBrowse link
G G2E3 G2/M-phase specific E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,854,410...68,917,070
Ensembl chr 7:68,852,777...68,916,992 		JBrowse link
G GEMIN2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,676,152...169,701,475
Ensembl chr 1:169,676,156...169,701,481 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,060,680...75,070,079
Ensembl chr 7:75,060,676...75,070,084 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895 		JBrowse link
G GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790 		JBrowse link
G HAUS4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,085,613...76,097,954
Ensembl chr 7:76,085,608...76,097,953 		JBrowse link
G HEATR5A HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794 		JBrowse link
G HECTD1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394 		JBrowse link
G HNRNPC heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078 		JBrowse link
G HOMEZ homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,789,184...75,798,027
Ensembl chr 7:75,789,185...75,798,026 		JBrowse link
G IL25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355 		JBrowse link
G INSM2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,372,361...64,378,366
Ensembl chr 7:64,374,823...64,376,495 		JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,103,971...75,110,027
Ensembl chr 7:75,100,273...75,110,446 		JBrowse link
G IPO4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,109,844...75,118,739
Ensembl chr 7:75,110,082...75,118,733 		JBrowse link
G IRF9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640 		JBrowse link
G JPH4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,522,349...75,532,983
Ensembl chr 7:75,522,630...75,532,982 		JBrowse link
G KHNYN KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,854,209...74,872,491
Ensembl chr 7:74,854,379...74,874,882 		JBrowse link
G KLHDC1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,540,222...179,605,556
Ensembl chr 1:179,540,547...179,605,628 		JBrowse link
G KLHDC2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,609,026...179,623,168
Ensembl chr 1:179,604,921...179,633,156 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,164,028...175,199,177
Ensembl chr 1:175,164,040...175,178,727 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146 		JBrowse link
G LOC100154047 cathepsin G ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,761,602...74,772,950 JBrowse link
G LOC100510915 olfactory receptor 4E2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,528,181...77,529,122
Ensembl chr 7:77,528,181...77,529,122 		JBrowse link
G LOC100512910 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,592,790...77,594,408
Ensembl chr 7:77,592,790...77,593,731 		JBrowse link
G LOC100517834 olfactory receptor 10G2-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,547,096...77,548,227 JBrowse link
G LOC100626020 ribonuclease 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,092,656...78,096,093 JBrowse link
G LOC100736765 myosin-6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644 		JBrowse link
G LOC102163838 non-secretory ribonuclease-like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,179,285...78,180,221 JBrowse link
G LOC110261607 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,992,961...77,998,062
Ensembl chr 7:77,996,783...77,997,718 		JBrowse link
G LRFN5 leucine rich repeat and fibronectin type III domain containing 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:171,906,130...172,177,726
Ensembl chr 1:171,906,198...172,177,720 		JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891 		JBrowse link
G LRR1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,461,399...179,475,337
Ensembl chr 1:179,462,247...179,475,334 		JBrowse link
G LTB4R leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,972,723...74,978,266
Ensembl chr 7:74,974,308...74,975,357 		JBrowse link
G LTB4R2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,978,871...74,983,811
Ensembl chr 7:74,978,876...74,983,768 		JBrowse link
G MBIP MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552 		JBrowse link
G MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:176,770,045...177,595,012
Ensembl chr 1:176,770,071...177,593,876 		JBrowse link
G MDP1 magnesium dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,087,443...75,088,944
Ensembl chr 7:75,087,468...75,089,227 		JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,138,237...78,145,322
Ensembl chr 7:78,138,233...78,145,331 		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 chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934 		JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801 		JBrowse link
G MIA2 MIA SH3 domain ER export factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,777,581...169,868,308 JBrowse link
G MIPOL1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000 		JBrowse link
G MIR208B microRNA mir-208b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865 		JBrowse link
G MIS18BP1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,401,386...175,449,399
Ensembl chr 1:175,401,390...175,448,276 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MRPL52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,187,447...76,191,647
Ensembl chr 7:76,187,446...76,191,901 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,111,736...78,121,216
Ensembl chr 7:78,112,536...78,121,215 		JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,161...75,085,899 		JBrowse link
G NEMF nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,622,728...179,671,225
Ensembl chr 1:179,622,755...179,670,996 		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 chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NGDN neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,621,334...75,629,447 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... NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575 		JBrowse link
G NKX2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514 		JBrowse link
G NOP9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,985,748...74,992,108
Ensembl chr 7:74,985,753...74,992,946 		JBrowse link
G NOVA1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:72,805,138...72,961,257
Ensembl chr 7:72,805,230...72,961,258 		JBrowse link
G NPAS3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,924,986...66,800,820
Ensembl chr 7:65,928,075...66,800,991 		JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,199,048...75,211,655
Ensembl chr 7:75,206,719...75,210,529 		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 chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,877,910...74,898,596
Ensembl chr 7:74,879,260...74,898,568 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,752,571...75,756,522
Ensembl chr 7:75,751,760...75,756,700 		JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310 		JBrowse link
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,187,195...75,197,613
Ensembl chr 7:75,187,197...75,197,733 		JBrowse link
G PNN pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,725,649...169,734,003
Ensembl chr 1:169,725,649...169,734,003 		JBrowse link
G POLE2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,495,278...179,529,891
Ensembl chr 1:179,495,214...179,529,896 		JBrowse link
G PPP1R3E protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,770,813...75,782,717
Ensembl chr 7:75,776,720...75,780,649 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		JBrowse link
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,285,219...175,317,245
Ensembl chr 1:175,285,270...175,317,298 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491 		JBrowse link
G PSMB11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,005,609...76,006,728
Ensembl chr 7:76,005,612...76,006,703 		JBrowse link
G PSMB5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,014,576...76,021,922 JBrowse link
G PSME1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810 		JBrowse link
G PSME2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870 		JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,698,907...77,717,211
Ensembl chr 7:77,689,551...77,716,772 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,021,716...75,028,229
Ensembl chr 7:75,021,755...75,028,875 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694 		JBrowse link
G RBM23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,120,725...76,132,148
Ensembl chr 7:76,124,944...76,136,596 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,125,537 		JBrowse link
G REM2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,141,015...76,149,162
Ensembl chr 7:76,143,726...76,150,147 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251 		JBrowse link
G RNASE1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,199,007...78,214,832
Ensembl chr 7:78,213,005...78,214,821 		JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,096,249...78,107,768 JBrowse link
G RNASE4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930 		JBrowse link
G RNASE6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,220,131...78,221,665
Ensembl chr 7:78,220,131...78,221,665 		JBrowse link
G RNF212B ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,798,895...75,831,455
Ensembl chr 7:75,796,882...75,829,620 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928 		JBrowse link
G RPL10L ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:176,603,177...176,604,116
Ensembl chr 1:176,603,248...176,603,892 		JBrowse link
G RPL36AL ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,476,638...179,477,820
Ensembl chr 1:179,476,640...179,479,147 		JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,454,923...179,456,847
Ensembl chr 1:179,454,928...179,461,631 		JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376 		JBrowse link
G SCFD1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008 		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 chr 7:74,851,049...74,855,740
Ensembl chr 7:74,851,202...74,858,921 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:61,113,760...61,184,218
Ensembl chr 7:61,113,802...61,193,258 		JBrowse link
G SLC22A17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,734,724...75,741,115
Ensembl chr 7:75,734,871...75,741,112 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625 		JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,127,628...78,132,900
Ensembl chr 7:78,129,237...78,131,819 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931 		JBrowse link
G SNX6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,156,476...65,205,249
Ensembl chr 7:65,156,478...65,205,239 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		JBrowse link
G SSTR1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:61,890,560...61,900,567
Ensembl chr 7:61,890,563...61,894,978 		JBrowse link
G STRN3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273 		JBrowse link
G STXBP6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:74,294,859...74,551,370
Ensembl chr 7:74,294,948...74,552,433 		JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G THTPA thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,548,430...75,553,721
Ensembl chr 7:75,545,973...75,552,904 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:77,991,665...78,033,146
Ensembl chr 7:78,030,446...78,032,537 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159 		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 chr 7:77,679,405...77,698,952
Ensembl chr 7:77,678,475...77,698,917 		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 chr 7:78,106,126...78,108,570
Ensembl chr 7:78,105,215...78,110,405 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:169,710,948...169,722,782
Ensembl chr 1:169,709,558...169,722,735 		JBrowse link
G TSSK4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,094,921...75,104,189
Ensembl chr 7:75,094,926...75,106,331 		JBrowse link
G TTC6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:62,228,528...62,444,503
Ensembl chr 7:62,228,058...62,454,627 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 1:179,899,642...179,907,439
Ensembl chr 1:179,899,646...179,906,967 		JBrowse link
G ZFHX2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:75,554,876...75,586,782
Ensembl chr 7:75,552,618...75,586,132 		JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 7:78,028,560...78,043,491
Ensembl chr 7:78,035,228...78,043,464 		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 chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538 		JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINE1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SFTPA1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266 PMID:25741868 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393 		JBrowse link
G SFTPC surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		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 chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		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 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334 		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 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      respiratory system disease 3345
        Respiration Disorders 461
          respiratory failure 372
            newborn respiratory distress syndrome 200
              Brain-Lung-Thyroid Syndrome 172
              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 17415
    disease of anatomical entity 14875
      respiratory system disease 3345
        lower respiratory tract disease 2167
          lung disease 2133
            respiratory failure 372
              newborn respiratory distress syndrome 200
                Brain-Lung-Thyroid Syndrome 172
                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