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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:Brain-Lung-Thyroid Syndrome
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Accession:DOID:9004758 term browser browse the term
Synonyms:exact_synonym: CAHTP;   choreoathetosis and congenital hypothyroidism;   choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction;   choreoathetosis, hypothyroidism, and neonatal respiratory distress
 primary_id: MESH:C567034
 alt_id: OMIM:610978
 xref: NCI:C202546

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Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name 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 chrNW_004936722:1,658,287...1,671,848
Ensembl chrNW_004936722:1,658,302...1,671,853 		JBrowse link
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,252,083...1,264,018
Ensembl chrNW_004936722:1,227,198...1,264,855 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:213,916...230,802
Ensembl chrNW_004936722:213,916...230,906 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,331,568...1,341,854
Ensembl chrNW_004936722:1,331,566...1,341,863 		JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:6,744,923...7,228,670
Ensembl chrNW_004936494:6,744,892...7,228,686 		JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:39,372...40,070 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 chrNW_004936722:851,182...859,238
Ensembl chrNW_004936722:851,917...859,052 		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 chrNW_004936494:5,720,474...5,758,888 JBrowse link
G Arf6 ADP ribosylation factor 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:181,490...185,466
Ensembl chrNW_004936583:181,490...185,471 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:6,562,092...6,624,015
Ensembl chrNW_004936494:6,562,069...6,623,175 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:277,002...293,489
Ensembl chrNW_004936880:274,488...292,742 		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 chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,885,446...9,926,978
Ensembl chrNW_004936494:9,885,067...9,929,130 		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 chrNW_004936722:463,791...480,594
Ensembl chrNW_004936722:464,240...480,590 		JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:125,758...127,002
Ensembl chrNW_004936722:125,758...127,063 		JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,265,583...1,276,443
Ensembl chrNW_004936722:1,265,219...1,275,920 		JBrowse link
G Cebpe CCAAT enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,207,718...1,209,482
Ensembl chrNW_004936722:1,207,743...1,209,482 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:8,946,442...8,948,320 JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080 		JBrowse link
G Chmp4a charged multivesicular body protein 4A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:341,066...344,928
Ensembl chrNW_004936722:341,307...345,104 		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 chrNW_004936722:241,484...249,935
Ensembl chrNW_004936722:245,567...249,917 		JBrowse link
G Clec14a C-type lectin domain containing 14A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,112,163...12,115,836
Ensembl chrNW_004936494:12,114,371...12,115,787 		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 chrNW_004936722:993,755...996,362
Ensembl chrNW_004936722:993,877...996,383 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:454,818...462,324
Ensembl chrNW_004936722:454,775...462,990 		JBrowse link
G CUNH14orf119 chromosome unknown C14orf119 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,219,245...1,226,291
Ensembl chrNW_004936722:1,225,863...1,226,291 		JBrowse link
G CUNH14orf28 chromosome unknown C14orf28 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,355,562...4,365,470
Ensembl chrNW_004936583:4,355,492...4,363,107 		JBrowse link
G CUNH14orf93 chromosome unknown C14orf93 homolog ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,304,357...1,327,726
Ensembl chrNW_004936722:1,316,789...1,328,059 		JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,678,952...1,698,583
Ensembl chrNW_004936722:1,678,862...1,698,579 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:414,830...422,722
Ensembl chrNW_004936722:414,831...422,694 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:255,977...265,980
Ensembl chrNW_004936722:256,192...265,985 		JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:386,806...394,650
Ensembl chrNW_004936583:387,189...394,910 		JBrowse link
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:6,047,857...6,057,185 JBrowse link
G Eapp E2F associated phosphoprotein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:8,772,660...8,795,052 JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:64,405...64,897 JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,009,966...1,019,093
Ensembl chrNW_004936722:1,010,904...1,019,334 		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 chrNW_004936494:8,240,272...8,267,487
Ensembl chrNW_004936494:8,238,858...8,267,606 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:403,208...405,497
Ensembl chrNW_004936722:403,112...407,517 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,085,802...4,145,621 JBrowse link
G Fbxo33 F-box protein 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,930,659...12,969,264
Ensembl chrNW_004936494:12,929,814...12,969,479 		JBrowse link
G Fitm1 fat storage inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:410,294...411,680
Ensembl chrNW_004936722:410,294...411,679 		JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,146,745...4,162,062
Ensembl chrNW_004936583:4,146,615...4,164,568 		JBrowse link
G Foxa1 forkhead box A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:11,529,546...11,535,224
Ensembl chrNW_004936494:11,529,546...11,535,224 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,707,636...4,710,286 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 chrNW_004936494:5,352,126...5,409,648
Ensembl chrNW_004936494:5,352,238...5,409,739 		JBrowse link
G Gemin2 gem nuclear organelle associated protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,717,358...12,737,019
Ensembl chrNW_004936494:12,717,268...12,740,193 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:323,917...330,648 JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:6,074,140...6,078,747
Ensembl chrNW_004936494:6,074,140...6,078,747 		JBrowse link
G Haus4 HAUS augmin like complex subunit 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,352,070...1,378,497
Ensembl chrNW_004936722:1,351,990...1,362,333 		JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:5,902,543...6,024,106
Ensembl chrNW_004936494:5,903,892...6,008,582 		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 chrNW_004936494:5,761,801...5,853,673
Ensembl chrNW_004936494:5,758,347...5,851,952 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:368,041...425,967 JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,069,918...1,085,422 JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:997,476...1,000,881
Ensembl chrNW_004936722:996,960...1,003,201 		JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,645,568...9,648,449
Ensembl chrNW_004936494:9,645,673...9,647,361 		JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:359,741...370,514
Ensembl chrNW_004936722:360,250...373,400 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:380,193...385,887
Ensembl chrNW_004936722:380,572...384,372 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:842,324...851,190
Ensembl chrNW_004936722:841,816...851,135 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:116,025...124,890
Ensembl chrNW_004936722:116,611...124,832 		JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:294,200...342,289
Ensembl chrNW_004936583:294,799...341,396 		JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:256,360...269,131
Ensembl chrNW_004936583:256,394...268,998 		JBrowse link
G Klhl28 kelch like family member 28 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,299,148...4,333,973
Ensembl chrNW_004936583:4,319,988...4,333,973 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936495:15,238,726...15,278,840
Ensembl chrNW_004936495:15,238,738...15,278,840 		JBrowse link
G LOC101961792 olfactory receptor 5AU1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:341,227...342,336
Ensembl chrNW_004936880:341,227...342,162 		JBrowse link
G LOC101963005 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:339,510...344,928
Ensembl chrNW_004936722:339,500...342,993 		JBrowse link
G LOC101964730 olfactory receptor 10G3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:717,841...718,782
Ensembl chrNW_004936880:717,841...718,782 		JBrowse link
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
G LOC101973872 bcl-2-like protein 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,039,970...1,044,942
Ensembl chrNW_004936722:1,053,326...1,059,477
Ensembl chrNW_004936722:1,053,326...1,059,477 		JBrowse link
G LOC101974914 olfactory receptor 1509 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936976:415,720...416,646
Ensembl chrNW_004936976:415,720...416,646 		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 chrNW_004936494:14,908,783...15,155,797
Ensembl chrNW_004936494:15,138,854...15,156,555 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,421,396...1,427,439
Ensembl chrNW_004936722:1,419,259...1,427,497 		JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:407,360...416,226
Ensembl chrNW_004936583:407,481...416,239 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:232,320...233,802 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:239,811...242,050 JBrowse link
G Mbip MAP3K12 binding inhibitory protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:10,315,416...10,338,893
Ensembl chrNW_004936494:10,313,442...10,338,950 		JBrowse link
G Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:2,048,655...2,804,135
Ensembl chrNW_004936583:2,048,733...2,804,135 		JBrowse link
G Mettl17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:200,355...208,394
Ensembl chrNW_004936880:200,396...207,817 		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 chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544 		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 chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533 		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 chrNW_004936494:12,805,990...12,911,754 JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:11,177,594...11,494,252
Ensembl chrNW_004936494:11,250,728...11,494,252 		JBrowse link
G Mis18bp1 MIS18 binding protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,052,207...4,083,679 JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,459,263...1,464,208
Ensembl chrNW_004936722:1,459,241...1,465,114 		JBrowse link
G Ndrg2 NDRG family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:219,131...227,856
Ensembl chrNW_004936880:219,102...228,246 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:331,116...338,496
Ensembl chrNW_004936722:331,136...338,496 		JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:209,818...255,439
Ensembl chrNW_004936583:209,813...255,131 		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 chrNW_004936722:178,866...187,847
Ensembl chrNW_004936722:179,200...187,800 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:932,336...941,895
Ensembl chrNW_004936722:932,238...942,046 		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 chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566 		JBrowse link
G Nkx2-8 NK2 homeobox 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:10,580,445...10,581,798
Ensembl chrNW_004936494:10,580,445...10,581,798 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:250,001...255,908
Ensembl chrNW_004936722:249,358...256,192 		JBrowse link
G Nova1 NOVA alternative splicing regulator 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:1,720,030...1,853,177
Ensembl chrNW_004936494:1,717,268...1,853,430 		JBrowse link
G Npas3 neuronal PAS domain protein 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:7,965,156...8,144,244
Ensembl chrNW_004936494:7,310,005...8,143,610 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		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 chrNW_004936494:6,141,444...6,365,537
Ensembl chrNW_004936494:6,141,476...6,363,830 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:134,221...155,020
Ensembl chrNW_004936722:134,190...155,115 		JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,524,116...1,528,659 JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328 		JBrowse link
G Pnn pinin, desmosome associated protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,762,175...12,769,986 JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:340,428...386,633
Ensembl chrNW_004936583:341,456...386,395 		JBrowse link
G Ppp1r3e protein phosphatase 1 regulatory subunit 3E ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,062,669...1,066,611
Ensembl chrNW_004936722:1,063,576...1,066,617 		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 chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prkd1 protein kinase D1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:4,469,092...4,601,183
Ensembl chrNW_004936494:4,469,089...4,601,214 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:4,162,381...4,194,615
Ensembl chrNW_004936583:4,161,945...4,194,699 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:9,443,176...9,467,697 JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,279,867...1,281,232
Ensembl chrNW_004936722:1,280,042...1,280,923 		JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,285,488...1,293,637
Ensembl chrNW_004936722:1,285,482...1,295,106 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:405,491...408,277
Ensembl chrNW_004936722:403,112...408,473 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:398,406...401,987
Ensembl chrNW_004936722:397,876...402,167 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:610,903...628,176
Ensembl chrNW_004936880:610,878...628,753 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:283,682...289,548
Ensembl chrNW_004936722:283,544...290,429 		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 chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408 		JBrowse link
G Rbm23 RNA binding motif protein 23 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,389,534...1,402,487
Ensembl chrNW_004936722:1,397,697...1,401,372 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:369,366...375,243
Ensembl chrNW_004936722:369,423...375,243 		JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,412,068...1,416,967
Ensembl chrNW_004936722:1,410,731...1,416,991 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839 		JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:91,085...92,743
Ensembl chrNW_004936880:91,088...92,720 		JBrowse link
G Rnase13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:233,200...245,256
Ensembl chrNW_004936880:233,977...234,447 		JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209 		JBrowse link
G Rnase6 ribonuclease A family member k6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:78,532...79,342
Ensembl chrNW_004936880:78,081...79,021 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,086,237...1,116,352
Ensembl chrNW_004936722:1,088,424...1,116,352 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:385,972...397,718
Ensembl chrNW_004936722:385,971...398,030 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:2,975,604...2,976,248
Ensembl chrNW_004936583:2,975,604...2,976,248 		JBrowse link
G Rpl36al ribosomal protein L36a like ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:400,117...401,489 JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936583:426,476...428,008 JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:670,063...685,532
Ensembl chrNW_004936880:668,789...685,594 		JBrowse link
G Scfd1 sec1 family domain containing 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:5,410,219...5,501,687
Ensembl chrNW_004936494:5,410,269...5,501,498 		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 chrNW_004936722:111,958...114,925
Ensembl chrNW_004936722:111,896...117,820 		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 chrNW_004936494:12,643,790...12,702,390
Ensembl chrNW_004936494:12,642,870...12,699,218 		JBrowse link
G Slc22a17 solute carrier family 22 member 17 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,023,026...1,029,484
Ensembl chrNW_004936722:1,022,971...1,029,672 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083 		JBrowse link
G Slc39a2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:207,810...211,876
Ensembl chrNW_004936880:209,738...211,531 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,464,252...1,523,786
Ensembl chrNW_004936722:1,478,240...1,527,121 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:1,143,405...1,202,407
Ensembl chrNW_004936722:1,143,309...1,202,514 		JBrowse link
G Snx6 sorting nexin 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:8,819,695...8,880,298
Ensembl chrNW_004936494:8,821,147...8,879,446 		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 chrNW_004936495:15,286,524...15,365,598 JBrowse link
G Sptssa serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066 		JBrowse link
G Sstr1 somatostatin receptor 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,065,388...12,067,759
Ensembl chrNW_004936494:12,065,473...12,066,648 		JBrowse link
G Strn3 striatin 3 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:5,635,870...5,722,123
Ensembl chrNW_004936494:5,634,191...5,722,462 		JBrowse link
G Stxbp6 syntaxin binding protein 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:250,131...494,599
Ensembl chrNW_004936494:250,126...438,956 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:511,699...545,364
Ensembl chrNW_004936880:508,244...545,369 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:858,119...904,630
Ensembl chrNW_004936722:855,975...863,098 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:352,918...359,905
Ensembl chrNW_004936722:353,710...359,905 		JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:302,889...307,007
Ensembl chrNW_004936880:304,740...306,616 		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 chrNW_004936583:4,213,853...4,298,916
Ensembl chrNW_004936583:4,213,847...4,298,945 		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 chrNW_004936880:628,316...646,006
Ensembl chrNW_004936880:627,576...646,006 		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 chrNW_004936880:230,626...232,540
Ensembl chrNW_004936880:230,626...232,540 		JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:12,740,268...12,758,697
Ensembl chrNW_004936494:12,740,268...12,758,662 		JBrowse link
G Tssk4 testis specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:345,698...348,531
Ensembl chrNW_004936722:346,070...348,418 		JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936494:11,555,002...11,744,814 JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004940197:408...5,645
Ensembl chrNW_004940197:1,070...5,090 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936722:865,197...895,848
Ensembl chrNW_004936722:864,735...895,848 		JBrowse link
G Znf219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chrNW_004936880:293,874...308,160
Ensembl chrNW_004936880:289,876...298,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    syndrome 9538
      Brain-Lung-Thyroid Syndrome 163
Path 2
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      nervous system disease 12397
        central nervous system disease 11088
          brain disease 10412
            movement disease 2381
              Dyskinesias 2037
                Athetosis 165
                  Brain-Lung-Thyroid Syndrome 163
paths to the root